Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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GC | 0.700 | CausalMutation | CLINVAR | Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. | 17369502 | 2007 |
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GC | 0.700 | CausalMutation | CLINVAR | Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. | 16542390 | 2006 |
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GC | 0.700 | CausalMutation | CLINVAR | Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. | 16835897 | 2006 |
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GC | 0.700 | CausalMutation | CLINVAR | A prospective study of neurofibromatosis type 1 cancer incidence in the UK. | 16786042 | 2006 |
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GC | 0.700 | CausalMutation | CLINVAR | Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. | 15221447 | 2004 |
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GC | 0.700 | CausalMutation | CLINVAR | Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. | 10726756 | 2000 |
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GC | 0.700 | CausalMutation | CLINVAR | Do NF1 gene deletions result in a characteristic phenotype? | 9375928 | 1997 |
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GC | 0.700 | CausalMutation | CLINVAR | Watson syndrome: is it a subtype of type 1 neurofibromatosis? | 1770531 | 1991 |
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GC | 0.700 | CausalMutation | CLINVAR | Pulmonary stenosis, café-au-lait spots, and dull intelligence. | 6025371 | 1967 |